Prevalent connexin 26 gene (GJB2) mutations in Japanese

Satoko Abe, Shin Ichi Usami, Hideichi Shinkawa, Philip M. Kelley, William J. Kimberling

    Research output: Contribution to journalArticlepeer-review

    324 Scopus citations

    Abstract

    The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2 mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Of these three mutations, 235delC was most prevalent at 73%. Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations.

    Original languageEnglish (US)
    Pages (from-to)41-43
    Number of pages3
    JournalJournal of medical genetics
    Volume37
    Issue number1
    DOIs
    StatePublished - 2000

    Keywords

    • Connexin 26
    • GJB2
    • Japanese
    • Non-syndromic hearing loss

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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